The University of Southampton
×
Filter your search:
University of Southampton Institutional Repository

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
1018-4813
63-64
Blok, Lot Snijders
82617cc3-6ae9-4469-8ae5-cb286b736715
Verseput, Jolijn
14fbf8e4-a32a-4d9d-b31e-351c42dae1cd
Rots, Dmitrijs
995e212f-8c65-49b3-b0bc-43e130dc251e
Venselaar, Hanka
f2cac914-5c96-4873-bbbc-43f4c07a8aea
Innes, A.M.
ff3bfe99-f379-4b31-a914-8a6de1ec3487
Stumpel, Connie
12f4b926-94ef-42a9-a307-eec2b0373c43
Ounap, Katrin
0acf2ca4-66ff-43f4-b0b1-11e73e729fb9
Reinson, Karit
548d4041-10f7-4261-8322-8df149fdaca7
Seaby, Eleanor G.
ec948f42-007c-4bd8-9dff-bb86278bf03f
Mckee, Shane
697d9bc8-c8dd-43dd-b829-1f4bcf0c2c82
Burton, Barbara
3a47e8c8-3ba3-44b0-94f2-faa86d9baa7f
van Hagen, Johanna M.
09acc5c1-7953-4bd0-ab42-265a19eed138
Waisfisz, Quinten
c84de295-56d8-40cb-86b7-824ce1a96670
Joset, Pascal
6cdf2a08-0528-4e46-b2ce-a61837357456
Steindl, Katharina
b23849e6-7022-4341-9156-2a18c374ede4
Rauch, Anita
0f9ba7b2-4334-4dbf-a391-de630f7c39e5
Li, Dong
3b170091-ccaa-4d3a-8f3d-a1133f816b8a
Zackai, Elaine
545c933b-69a8-4797-9a1f-2ede34cabf08
Sheppard, Sarah
12479d51-bad4-4915-a4cc-9ea6b67ccd9c
Keena, Beth
ea617834-f66f-4109-88dc-a71ed9eba49f
Hakonarson, Hakon
2bbcbada-c11d-41b6-acbe-32e998c8f6c3
Roos, Andreas
420a231d-8e95-4696-a529-4bd197c6ee5f
Kohlschmidt, Nicolai
56a1476d-7239-4137-986f-dce2ae64003e
Cereda, Anna
47b2f2ff-b47b-400e-b5f6-964e6db80773
Iascone, Maria
e92f0c07-eedc-4c27-b06a-621e9881e7d9
Rebessi, Erika
a2789c71-824b-4bac-bbd6-4bc346752730
Kernohan, Kristin D.
7ee394ba-9109-4909-ba41-4db3bf90c950
Campeau, Philippe M.
a89eebad-3fec-408f-a5fa-1b6f61cfa7dd
Millan, Francisca
cf275e08-b7c4-4869-9197-310980ab69a6
Taylor, Jesse A.
859d1bae-3030-41a8-bc44-63e275c89698
Bernhard, Birgitta
96bdda3e-8af9-4b2d-a8aa-66f7a78a4eae
Fisher, Simon E.
25ab2af1-c50d-49c7-b021-0054888c2b56
Brunner, Han G.
00f10a57-1b22-4e9f-96c0-3e07e44770a9
Kleefstra, Tjitske
132811b6-1792-4fdf-900c-b9aa819b144b
Blok, Lot Snijders
82617cc3-6ae9-4469-8ae5-cb286b736715
Verseput, Jolijn
14fbf8e4-a32a-4d9d-b31e-351c42dae1cd
Rots, Dmitrijs
995e212f-8c65-49b3-b0bc-43e130dc251e
Venselaar, Hanka
f2cac914-5c96-4873-bbbc-43f4c07a8aea
Innes, A.M.
ff3bfe99-f379-4b31-a914-8a6de1ec3487
Stumpel, Connie
12f4b926-94ef-42a9-a307-eec2b0373c43
Ounap, Katrin
0acf2ca4-66ff-43f4-b0b1-11e73e729fb9
Reinson, Karit
548d4041-10f7-4261-8322-8df149fdaca7
Seaby, Eleanor G.
ec948f42-007c-4bd8-9dff-bb86278bf03f
Mckee, Shane
697d9bc8-c8dd-43dd-b829-1f4bcf0c2c82
Burton, Barbara
3a47e8c8-3ba3-44b0-94f2-faa86d9baa7f
van Hagen, Johanna M.
09acc5c1-7953-4bd0-ab42-265a19eed138
Waisfisz, Quinten
c84de295-56d8-40cb-86b7-824ce1a96670
Joset, Pascal
6cdf2a08-0528-4e46-b2ce-a61837357456
Steindl, Katharina
b23849e6-7022-4341-9156-2a18c374ede4
Rauch, Anita
0f9ba7b2-4334-4dbf-a391-de630f7c39e5
Li, Dong
3b170091-ccaa-4d3a-8f3d-a1133f816b8a
Zackai, Elaine
545c933b-69a8-4797-9a1f-2ede34cabf08
Sheppard, Sarah
12479d51-bad4-4915-a4cc-9ea6b67ccd9c
Keena, Beth
ea617834-f66f-4109-88dc-a71ed9eba49f
Hakonarson, Hakon
2bbcbada-c11d-41b6-acbe-32e998c8f6c3
Roos, Andreas
420a231d-8e95-4696-a529-4bd197c6ee5f
Kohlschmidt, Nicolai
56a1476d-7239-4137-986f-dce2ae64003e
Cereda, Anna
47b2f2ff-b47b-400e-b5f6-964e6db80773
Iascone, Maria
e92f0c07-eedc-4c27-b06a-621e9881e7d9
Rebessi, Erika
a2789c71-824b-4bac-bbd6-4bc346752730
Kernohan, Kristin D.
7ee394ba-9109-4909-ba41-4db3bf90c950
Campeau, Philippe M.
a89eebad-3fec-408f-a5fa-1b6f61cfa7dd
Millan, Francisca
cf275e08-b7c4-4869-9197-310980ab69a6
Taylor, Jesse A.
859d1bae-3030-41a8-bc44-63e275c89698
Bernhard, Birgitta
96bdda3e-8af9-4b2d-a8aa-66f7a78a4eae
Fisher, Simon E.
25ab2af1-c50d-49c7-b021-0054888c2b56
Brunner, Han G.
00f10a57-1b22-4e9f-96c0-3e07e44770a9
Kleefstra, Tjitske
132811b6-1792-4fdf-900c-b9aa819b144b

Blok, Lot Snijders, Verseput, Jolijn, Rots, Dmitrijs, Venselaar, Hanka, Innes, A.M., Stumpel, Connie, Ounap, Katrin, Reinson, Karit, Seaby, Eleanor G., Mckee, Shane, Burton, Barbara, van Hagen, Johanna M., Waisfisz, Quinten, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Li, Dong, Zackai, Elaine, Sheppard, Sarah, Keena, Beth, Hakonarson, Hakon, Roos, Andreas, Kohlschmidt, Nicolai, Cereda, Anna, Iascone, Maria, Rebessi, Erika, Kernohan, Kristin D., Campeau, Philippe M., Millan, Francisca, Taylor, Jesse A., Bernhard, Birgitta, Fisher, Simon E., Brunner, Han G. and Kleefstra, Tjitske (2022) A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. European Journal of Human Genetics, 30 (Suppl. 1), 63-64.

Record type: Meeting abstract

This record has no associated files available for download.

More information

Published date: 7 April 2022
Learn more about Engineering Sciences research

Identifiers

Local EPrints ID: 485231
URI: http://eprints.soton.ac.uk/id/eprint/485231
ISSN: 1018-4813
PURE UUID: 4cb48e27-743f-457e-91a9-66c9163924b4
ORCID for Eleanor G. Seaby: ORCID iD orcid.org/0000-0002-6814-8648

Catalogue record

Date deposited: 01 Dec 2023 17:44
Last modified: 02 Dec 2023 02:59

Export record

Contributors

Author: Lot Snijders Blok
Author: Jolijn Verseput
Author: Dmitrijs Rots
Author: Hanka Venselaar
Author: A.M. Innes
Author: Connie Stumpel
Author: Katrin Ounap
Author: Karit Reinson
Author: Eleanor G. Seaby ORCID iD
Author: Shane Mckee
Author: Barbara Burton
Author: Johanna M. van Hagen
Author: Quinten Waisfisz
Author: Pascal Joset
Author: Katharina Steindl
Author: Anita Rauch
Author: Dong Li
Author: Elaine Zackai
Author: Sarah Sheppard
Author: Beth Keena
Author: Hakon Hakonarson
Author: Andreas Roos
Author: Nicolai Kohlschmidt
Author: Anna Cereda
Author: Maria Iascone
Author: Erika Rebessi
Author: Kristin D. Kernohan
Author: Philippe M. Campeau
Author: Francisca Millan
Author: Jesse A. Taylor
Author: Birgitta Bernhard
Author: Simon E. Fisher
Author: Han G. Brunner
Author: Tjitske Kleefstra

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Library staff additional information
Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×